A ROR2 coding variant is associated with craniofacial variation in domestic pigeons.
A ROR2 coding variant is associated with craniofacial variation in domestic pigeons.
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DOI：
10.1016/j.cub.2021.08.068
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发表时间：
2021-11-22
期刊：
影响因子：
--
通讯作者：
Shapiro MD
中科院分区：
文献类型：
--
作者：
Boer EF;Van Hollebeke HF;Maclary ET;Holt C;Yandell M;Shapiro MD
脊椎动物颅面形态发生是一个高度协调的过程，由进化上保守的发育途径指导。在物种内，渠化的发展通常产生适度的形态变异。然而，由于数千年的人工选择，家鸽在一个物种内显示出激进的颅面变异。鸽子颅面变异最显著的例子之一是短喙表型，它在许多品种中被选择。经典的遗传学实验表明，鸽子喙长受少数遗传因素的调控，其中之一是性连锁（Ku2位点）。然而，鸽子颅面变异的遗传基础仍然未知。使用几何形态计量学和数量性状基因座（QTL）定位之间的F2互交短喙老德国猫头鹰（OGO）和中型喙赛马荷马（RH），我们确定了一个单一的Z染色体基因座，解释了大部分的变异喙形态在F2人口。互补的比较基因组分析表明，相同的基因座之间的品种有很大的差异，短和中等的喙。在Ku2基因座内，我们确定了非经典Wnt受体ROR2中的氨基酸取代作为鸽子喙长的假定调节因子。非经典Wnt信号通路在脊椎动物神经嵴细胞迁移和颅面形态发生中起着关键作用。在人类中，ROR2突变导致Robinow综合征，这是一种以骨骼异常为特征的先天性疾病，包括面部骨骼变宽和变短。我们的研究结果说明了鸽子之间的非凡颅面变异如何揭示脊椎动物颅面多样性的遗传调节因子。
Vertebrate craniofacial morphogenesis is a highly orchestrated process that is directed by evolutionarily conserved developmental pathways. Within species, canalized development typically produces modest morphological variation. However, as a result of millennia of artificial selection, the domestic pigeon displays radical craniofacial variation within a single species. One of the most striking cases of pigeon craniofacial variation is the short beak phenotype, which has been selected in numerous breeds. Classical genetic experiments suggest that pigeon beak length is regulated by a small number of genetic factors, one of which is sex-linked (Ku2 locus). However, the genetic underpinnings of pigeon craniofacial variation remain unknown. Using geometric morphometrics and quantitative trait loci (QTL) mapping on an F2 intercross between a short-beaked Old German Owl (OGO) and a medium-beaked Racing Homer (RH), we identified a single Z-chromosome locus that explains a majority of the variation in beak morphology in the F2 population. Complementary comparative genomic analyses revealed that the same locus is strongly differentiated between breeds with short and medium beaks. Within the Ku2 locus, we identified an amino acid substitution in the non-canonical Wnt receptor ROR2 as a putative regulator of pigeon beak length. The non-canonical Wnt pathway serves critical roles in vertebrate neural crest cell migration and craniofacial morphogenesis. In humans, ROR2 mutations cause Robinow syndrome, a congenital disorder characterized by skeletal abnormalities, including a widened and shortened facial skeleton. Our results illustrate how the extraordinary craniofacial variation among pigeons can reveal genetic regulators of vertebrate craniofacial diversity.
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影响因子：
9.2
作者：
Domyan, Eric T.;Guernsey, Michael W.;Kronenberg, Zev;Krishnan, Shreyas;Boissy, Raymond E.;Vickrey, Anna I.;Rodgers, Clifford;Cassidy, Pamela;Leachman, Sancy A.;Fondon, John W., III;Yandell, Mark;Shapiro, Michael D.
通讯作者：
Shapiro, Michael D.
影响因子：
4.5
作者：
Bruders, Rebecca;Van Hollebeke, Hannah;Shapiro, Michael D.
通讯作者：
Shapiro, Michael D.
影响因子：
5.3
作者：
Ali, Bassam R.;JeVery, Steve;Afzal, Ali R.
通讯作者：
Afzal, Ali R.
肢体身份的分子转移是两个家用禽类中羽毛脚发育的基础。
影响因子：
7.7
作者：
Domyan ET;Kronenberg Z;Infante CR;Vickrey AI;Stringham SA;Bruders R;Guernsey MW;Park S;Payne J;Beckstead RB;Kardon G;Menke DB;Yandell M;Shapiro MD
通讯作者：
Shapiro MD
影响因子：
14.9
作者：
Bult CJ;Blake JA;Smith CL;Kadin JA;Richardson JE;Mouse Genome Database Group
通讯作者：
Mouse Genome Database Group